title: A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption.
abstract: Hereditary folate malabsorption (OMIM 229050) is a rare autosomal recessive disorder caused by loss-of-function mutations in the proton-coupled folate transporter gene (pcft/SLC46A1) resulting in impaired folate transport across the intestine and into the central nervous system. We report a novel, homozygous, deletion mutation in a child of Nicaraguan descent in exon 2 (c.558-588 del, ss778190447) at amino acid position I188 resulting in a frameshift with a premature stop.
authors.affiliation: Department of Molecular Pharmacology, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.
authors.forename: N
authors.initials: N
authors.lastname: Diop-Bove
authors.forename: M
authors.initials: M
authors.lastname: Jain
authors.forename: F
authors.initials: F
authors.lastname: Scaglia
authors.forename: I D
authors.initials: ID
authors.lastname: Goldman
mesh_terms: D005492:Folic Acid / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008286:Malabsorption Syndromes / Q000235:genetics*; D008297:Male; D009527:Nicaragua; D058979:Proton-Coupled Folate Transporter / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D058979:Proton-Coupled Folate Transporter; C505058:SLC46A1 protein, human; D005492:Folic Acid
keywords: CSF; Folate deficiency; Folates; HCP1, heme carrier protein; HFM; HFM, hereditary folate malabsorption; Intestinal folate transport; PCFT; PCFT, proton-coupled folate transporter; cerebrospinal fluid; hereditary folate malabsorption; proton-coupled folate transporter